Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type

Kidney International

Volumn 57, Issue 2, 2000, Pages 401-404

  Aya, Kunihiko ^a   Tanaka, Hiroyuki ^a   Seino, Yoshiki ^a  

^a OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

Finnish congenital nephrotic syndrome; Gene mutation; Glomerular protein; Japanese nephrotic syndrome; Missense mutation

Indexed keywords

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONGENITAL NEPHROTIC SYNDROME; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; JAPAN; MALE; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0033933128     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2000.00859.x     Document Type: Article

References (3)

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2. 2. LENKKERI U, MANNIKKO M, MCCREADY P, LAMERDIN J, GRIBOUVAL O, NIAUDET P, ANTIGNAC C, KASHTAN CE, HOLMBERG C, OLSEN A, KESTILA M, TRYGGVASON K: Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. Am J Hum Genet 64:51-61, 1999
3. 3. ZHAN S, SHAPIRO D, HELMAN LJ: Activation of an imprinted allele of the insulin-like growth factor II gene implicated in rhabdomyosarcoma. J Clin Invest 94:445-448, 1994